Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.
D017398:Alternative Splicing; D001483:Base Sequence; D002478:Cells, Cultured; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D018076:DNA, Complementary; D003937:Diagnosis, Differential; D005091:Exons; D005784:Gene Amplification; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007438:Introns; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites
D004251:DNA Transposable Elements; D018076:DNA, Complementary; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009692:Nucleic Acid Heteroduplexes; D011506:Proteins; D022821:RNA Splice Sites; C092928:Surf-1 protein